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Results for the Protein: Q9GZU1
50401163

MCLN1_HUMAN RecName: Full=Mucolipin-1; AltName: Full=MG-2; AltName: Full=Mucolipidin

Known Diseases associated with this Protein:
  MUCOLIPIDOSIS IV
  MUCOLIPIDOSIS TYPE IV (MLIV)
11
1
4
0
8
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Swiss-Prot Protein: Q9GZU1
Identical to: NP_065394
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_038380Diseasep.ARG403CYSMucolipidosis type IV (MLIV)
Swiss-ProtVAR_019371Diseasep.ASP362TYRMucolipidosis type IV (MLIV)
Swiss-ProtVAR_019369Diseasep.LEU106PROMucolipidosis type IV (MLIV)
Swiss-ProtVAR_019374Diseasep.LEU447PROMucolipidosis type IV (MLIV)
Swiss-ProtVAR_019375Diseasep.PHE465LEUMucolipidosis type IV (MLIV)
Swiss-ProtVAR_019370Diseasep.THR232PROMucolipidosis type IV (MLIV)
Swiss-ProtVAR_036453Polymorphismp.VAL331LEUN/A
Swiss-ProtVAR_019373Diseasep.VAL446LEUMucolipidosis type IV (MLIV)
OMIM605248.0007 Diseasep.ARG403CYSMUCOLIPIDOSIS IV
OMIM605248.0006 Diseasep.ARG102TERMUCOLIPIDOSIS IV
OMIM605248.0003 Diseasep.ARG321TERMUCOLIPIDOSIS IV
OMIM605248.0005 Diseasep.ASP362TYRMUCOLIPIDOSIS IV



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